METHOD FOR DETERMINING COPY NUMBER

摘要

The present invention relates to a method of measuring the copy number frequency of one or more nucleic acid sequences in a sample, comprising the steps of: (a) providing one or more (eg. a plurality of) aliquot(s) of the sample, wherein each aliquot comprises nucleic acid in an amount that is less than one genome per aliquot; (b) amplifying one or more nucleic acid sequences in each of the aliquot(s) in a first amplification reaction; (c) amplifying in a second amplification reaction one or more nucleic acid sequences in each of the aliquot(s) obtained or obtainable from step (b), wherein at least one of the nucleic acid sequences is a test marker; and (d) calculating the copy number of the test marker by comparing the number of amplified products for the test marker with those for a reference marker.